Mayer-Rokitansky-Küster-Hauser Syndrome

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, also known as Müllerian aplasia, is a disorder characterized by agenesis of the uterus and the upper region of the vagina in female patients with normal secondary sexual features and a normal female karyotype (46XX). It shows a prevalence of around 1 in 5000 live births. It is usually diagnosed during adolescence when patients are studied for primary amenorrhea. It is classified as type I isolated útero-vaginal aplasia or as type II, when it is associated with non-genital signs. Non-genital abnormalities often include ear, renal, cardiac, or skeletal malformations. Its exact etiology is still unknown today, which is due to the level of complexity of the genetic pathways involved during embryogenetic development of the Müllerian ducts. Ultrasound and magnetic resonance imaging are the most widely used fundamental diagnostic means. Treatment for vaginal agenesis focuses on procedures aimed at the creation of a neovagina, either with non-invasive vaginal dilations, which are recommended as first-line therapy, or by surgery. This syndrome implies absolute uterine factor infertility, whose main therapeutic options are in vitro fertilization using autologous oocytes and a surrogate gestational carrier, as well as uterine transplantation to achieve biological motherhood. The psychosexual impact that this syndrome implies requires continuous psychological counseling and therapeutic education.

Key words: MRKH, vaginal agenesis, neovagina, infertility